1000 Genomes Project Wraps up After 25 Years

BLACKSBURG, Va., October 13, 2015 - The 1000 Genomes Project is the first comprehensive human genome sequencing project that relies on next-generation sequencing to peer deeply into the human genome in all its variation. With aid from Virginia Bioinformatics Institute researchers, the project’s phase three publication was recently posted to Nature.

“This is the largest catalog of human variation from populations around the globe and I am honored to have played a tiny role,” said David Mittelman, co-author on the paper and former associate professor at the Virginia Bioinformatics Institute.

The first sequencing of the human genome gave us the scaffolding for what a genome should look like. In genome-wide association studies (GWAS) like the 1000 Genomes Project, scientists try to look deeper, finding regions of the genome associated with a particular disease or trait. The method of sequencing used in the 1000 Genomes Project, coupled with computational modeling, gives us a more comprehensive understanding of the human genome.

Much like Google Maps has improved upon standard maps, the 1000 Genomes Project gives an even closer look at the regions of the genome. “Now all we need,” noted Mittelman, “are the apps like Yelp that help describe the map in even more detail. VBI can provide that genomic Yelp.”

“At VBI, we continue groundbreaking research at the foundations of informational analysis of biomolecular systems. We are particularly interested in research at the foundations of understanding genomic processes in context and complexity,” said Chris Barrett, executive director of the institute.